Syndromes

Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after birth or during early childhood. It is important to diagnosis Turner Syndrome as early

Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the second toes; a depressed nasal bridge; relatively small ears, mouth, hands and feet; short stature; decreased muscle tone and loose ligaments among others. Not every child with Down syndrome has all of these

Werner syndrome is an autosomal recessive genetic condition associated with the WRN gene (7). The WRN gene found on chromosome 8 encodes a protein called Werner (4). The Werner protein works as a helicase assisting in the unwinding of DNA. The helicase belongs to the RecQ helicase family and assists in DNA repair, maintenance and regulation of telomeres (4). The Werner protein also functions as an exonuclease that also assists in DNA repair, replication and transcription (4). The Werner protein has

Morquio syndrome is an uncommon hereditary birth defect that is likely to happen in one of every 200,000 births. This illness may not be noticeable at birth. Some symptoms start between the years of 1 and 3. This syndrome is an advanced illness meaning that each year the child gets older this disease gets even worse. Morquio syndrome belongs to a group of syndromes named mucopolysaccharidosis (MPS). Morquio is also identified as MPS IV.In

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother

Physical: Tourette syndrome is a neurological disorder that is characterized by involuntary movements referred to as a tic. The tics can range from being relatively simple to complex. - Simple: sudden repetitive movements that only involve a small number of muscle groups. Involves eye blinking, other eye movements, shoulder tension, facial rigidity, and head and shoulder twitching. -Complex: Very distinct characteristics. These complex tics involve several muscle groups. Combined facial rigidity

Swyer Syndrome, also refered as XY gonadal dysgenesis, is a rare disorder in which sexual development is affected. Sexual development is usually determined by an individual’s chromosomes but with Swyer Syndrome that is not the case. This disorder affects 1 in 80,000 people. “Sywer Syndrome was first described in the medical literature by Dr.Swyer in 1955.” (2016). Individuals with this disease are born with 46, XY, Karyotype but have female reproductive parts. Even though these women are born without

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.”

The likely inheritance of Marfans syndrome is autosomal dominant and vertically inherited trait. In an autosomal dominant inheritance pattern, a person only needs one copy of the dominant allele from one parent to display the disorder. If they do not have Marfans syndrome, they are not a carrier for the disease. A person who has Marfans has a 50% chance of passing that disease to its offspring, as long as their partner does not have Marfans. If a person with Marfans were to mate with another person

Sturge-Weber Syndrome Kris Avila 08/30/2015 NURSPT 030L Mrs. B Abstract According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface